Experimental Technology Sheds Light on Rare Disease

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Sometimes, the only thing a rare disease needs is for technology to catch up with the times and save the day. Recently, this came in the form of three dimensional modeling and CRISPR-Case9 gene editing. These technological feats are casting a spotlight on the rare Sturge-Weber syndrome.

This congenital disorder is caused by an overabundance of tiny blood vessels. This results in red marks on the skin, known as a port-wine stain, and in rare cases, it causes brain seizures. To learn more about Sturge-Weber syndrome, click here.

The scientific breakthrough started at Boston Children’s Hospital with an A-team of researchers led by Joyce Bischoff PhD, of the Vascular Biology Program. She uncovered that the mutation that led to Sturge-Weber syndrome is burrowed in endothelial cells, which line capillaries in the brain. Bischoff and her team deduced that the source of the abnormal cell behavior was in these mutated endothelial cells.

In order to prove this theory, Joyce and company are trying to find methods of recreating these capillary abnormalities. They plan to use 3D chip technology to create relevant network that contains the disease’s mutation. This elaborate process is called GNAQ R183Q.

With the help of the Sturge-Weber Foundation, Colette Bichsel, PhD, a Boston Children’s research fellow in Bischoff’s lab, is harnessing her skills in microvasculature modeling to flesh out 3D models as well. By recreating the exact events that cause these mutations, the team can better understand it and hopefully find a cure.

To date, the experiment has seen positive results and shed light on how endothelial cells are created. Though it’s too early to tell any real conclusions, the team is optimistic that the 3D model will continue to teach them about the dynamics of this rare disease.

“We’re thrilled to continue our lab’s partnership with the Sturge-Weber Foundation on this research,” said Bischoff to the Medical XPress. “Our ultimate hope is that this research lays the groundwork for new therapies that can prevent these capillary malformations from developing to a point where they are detrimental to patients’ quality of life.”

To read more, click here.


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